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Aliases for TMUB1 Gene

Aliases for TMUB1 Gene

  • Transmembrane And Ubiquitin Like Domain Containing 1 2 3
  • Transmembrane And Ubiquitin-Like Domain Containing 1 2 3 5
  • Dendritic Cell-Derived Ubiquitin-Like Protein 3 4
  • Hepatocyte Odd Protein Shuttling Protein 3 4
  • Ubiquitin-Like Protein SB144 3 4
  • C7orf21 3 4
  • DULP 3 4
  • Chromosome 7 Open Reading Frame 21 2
  • Ubiquitin-Like Protein DULP 3
  • SB144 3
  • HOPS 4

External Ids for TMUB1 Gene

Previous HGNC Symbols for TMUB1 Gene

  • C7orf21

Previous GeneCards Identifiers for TMUB1 Gene

  • GC07M150409
  • GC07M150778
  • GC07M144590

Summaries for TMUB1 Gene

GeneCards Summary for TMUB1 Gene

TMUB1 (Transmembrane And Ubiquitin Like Domain Containing 1) is a Protein Coding gene. An important paralog of this gene is TMUB2.

UniProtKB/Swiss-Prot for TMUB1 Gene

  • Involved in sterol-regulated ubiquitination and degradation of HMG-CoA reductase HMGCR (PubMed:21343306). Involved in positive regulation of AMPA-selective glutamate receptor GRIA2 recycling to the cell surface (By similarity). Acts as negative regulator of hepatocyte growth during regeneration (By similarity).

  • iHOPS: May contribute to the regulation of translation during cell-cycle progression. May contribute to the regulation of cell proliferation (By similarity). May be involved in centrosome assembly. Modulates stabilization and nucleolar localization of tumor suppressor CDKN2A and enhances association between CDKN2A and NPM1 (By similarity).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMUB1 Gene

Genomics for TMUB1 Gene

Regulatory Elements for TMUB1 Gene


Promoters for TMUB1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TMUB1 on UCSC Golden Path with GeneCards custom track

Genomic Location for TMUB1 Gene

Chromosome:
7
Start:
151,081,080 bp from pter
End:
151,083,546 bp from pter
Size:
2,467 bases
Orientation:
Minus strand

Genomic View for TMUB1 Gene

Genes around TMUB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMUB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMUB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMUB1 Gene

Proteins for TMUB1 Gene

  • Protein details for TMUB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BVT8-TMUB1_HUMAN
    Recommended name:
    Transmembrane and ubiquitin-like domain-containing protein 1
    Protein Accession:
    Q9BVT8
    Secondary Accessions:
    • D3DX06
    • Q53AQ2

    Protein attributes for TMUB1 Gene

    Size:
    246 amino acids
    Molecular mass:
    26261 Da
    Quaternary structure:
    • Interacts with EEF1A1, GRIA2, GRIP1, CAMLG, TUBG1 (By similarity). Interacts with NPM1 and CDKN2A; TMUB1 can enhance interaction between NPM1 and CDKN2A and is proposed to bridge the proteins; proposed to be mediated by iHOPS (By similarity). Interacts with ERLIN2 and AMFR; TMUB1 promotes the interaction of ERLIN2 with AMFR (PubMed:21343306).

neXtProt entry for TMUB1 Gene

Proteomics data for TMUB1 Gene at MOPED

Post-translational modifications for TMUB1 Gene

  • iHOPS: Processed by regulated intramembrane proteolysis (RIP)in the N-terminus to release iHOPS from membranes (By similarity).
  • Ubiquitination at Lys 108 and Lys 129
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TMUB1 Gene

Domains & Families for TMUB1 Gene

Protein Domains for TMUB1 Gene

Suggested Antigen Peptide Sequences for TMUB1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BVT8

UniProtKB/Swiss-Prot:

TMUB1_HUMAN :
  • Contains 1 ubiquitin-like domain.
Domain:
  • Contains 1 ubiquitin-like domain.
genes like me logo Genes that share domains with TMUB1: view

No data available for Gene Families for TMUB1 Gene

Function for TMUB1 Gene

Molecular function for TMUB1 Gene

UniProtKB/Swiss-Prot Function:
Involved in sterol-regulated ubiquitination and degradation of HMG-CoA reductase HMGCR (PubMed:21343306). Involved in positive regulation of AMPA-selective glutamate receptor GRIA2 recycling to the cell surface (By similarity). Acts as negative regulator of hepatocyte growth during regeneration (By similarity).
UniProtKB/Swiss-Prot Function:
iHOPS: May contribute to the regulation of translation during cell-cycle progression. May contribute to the regulation of cell proliferation (By similarity). May be involved in centrosome assembly. Modulates stabilization and nucleolar localization of tumor suppressor CDKN2A and enhances association between CDKN2A and NPM1 (By similarity).
genes like me logo Genes that share phenotypes with TMUB1: view

Animal Models for TMUB1 Gene

MGI Knock Outs for TMUB1:

Animal Model Products

  • Taconic Biosciences Mouse Models for TMUB1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TMUB1 Gene

Localization for TMUB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMUB1 Gene

Membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane. Recycling endosome. Cytoplasm. Nucleus. Nucleus, nucleolus.
iHOPS: Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Nucleus, nucleolus. Nucleus. Note=iHOPS is proposed to be the shuttling form across different cellular compartments. XPO1-dependent exported from the nucleus in dividing cells. Predominantly nuclear during growth arrest. {ECO:0000250 UniProtKB:Q9JMG3}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TMUB1 Gene COMPARTMENTS Subcellular localization image for TMUB1 gene
Compartment Confidence
nucleus 5
plasma membrane 5
cytoskeleton 3
endosome 3
cytosol 2
extracellular 2

Gene Ontology (GO) - Cellular Components for TMUB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005730 nucleolus IEA --
GO:0005737 cytoplasm IDA --
GO:0016021 integral component of membrane IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with TMUB1: view

Pathways & Interactions for TMUB1 Gene

SuperPathways for TMUB1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMUB1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TMUB1 Gene

Drugs & Compounds for TMUB1 Gene

No Compound Related Data Available

Transcripts for TMUB1 Gene

Unigene Clusters for TMUB1 Gene

Transmembrane and ubiquitin-like domain containing 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TMUB1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b · 6c ^ 7a · 7b · 7c
SP1: - - - - - - - -
SP2: - - - - - - -
SP3: - - - - - -
SP4: - - - - -
SP5: - -
SP6: -
SP7: - -
SP8:

Relevant External Links for TMUB1 Gene

GeneLoc Exon Structure for
TMUB1
ECgene alternative splicing isoforms for
TMUB1

Expression for TMUB1 Gene

mRNA expression in normal human tissues for TMUB1 Gene

Protein differential expression in normal tissues from HIPED for TMUB1 Gene

This gene is overexpressed in Liver (8.4), Bone (8.0), Testis (6.6), and Fetal testis (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TMUB1 Gene



SOURCE GeneReport for Unigene cluster for TMUB1 Gene Hs.726215

mRNA Expression by UniProt/SwissProt for TMUB1 Gene

Q9BVT8-TMUB1_HUMAN
Tissue specificity: Ubiquitously expressed with highest levels in mammary and thyroid glands, bone marrow and spleen; limited expression in cardiac, pancreatic and ovarian tissues.
genes like me logo Genes that share expression patterns with TMUB1: view

Protein tissue co-expression partners for TMUB1 Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for TMUB1 Gene

Orthologs for TMUB1 Gene

This gene was present in the common ancestor of animals.

Orthologs for TMUB1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TMUB1 35
  • 90.38 (n)
  • 93.09 (a)
TMUB1 36
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TMUB1 35
  • 91.46 (n)
  • 93.9 (a)
TMUB1 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tmub1 35
  • 87.48 (n)
  • 89.8 (a)
Tmub1 16
Tmub1 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TMUB1 35
  • 100 (n)
  • 100 (a)
TMUB1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tmub1 35
  • 87.35 (n)
  • 90.61 (a)
oppossum
(Monodelphis domestica)
Mammalia TMUB1 36
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves TMUB1 35
  • 69.93 (n)
  • 58.74 (a)
TMUB1 36
  • 47 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TMUB1 36
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.11760 35
zebrafish
(Danio rerio)
Actinopterygii tmub1 35
  • 57.41 (n)
  • 52.24 (a)
wufa98b10 35
tmub1 36
  • 40 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea B0303.4 36
  • 8 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5389 36
  • 22 (a)
OneToMany
Species with no ortholog for TMUB1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TMUB1 Gene

ENSEMBL:
Gene Tree for TMUB1 (if available)
TreeFam:
Gene Tree for TMUB1 (if available)

Paralogs for TMUB1 Gene

Paralogs for TMUB1 Gene

(1) SIMAP similar genes for TMUB1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with TMUB1: view

Variants for TMUB1 Gene

Sequence variations from dbSNP and Humsavar for TMUB1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs150985726 -- 151,083,660(+) GGGGC(-/G)GGTTT upstream-variant-2KB
rs189795429 -- 151,082,902(+) TTCAC(C/T)CCAAC intron-variant, utr-variant-5-prime
rs182439780 -- 151,083,082(+) CCCCA(C/T)CCGCG intron-variant, utr-variant-5-prime
rs191009319 -- 151,083,349(+) GCCCC(A/C/T)CGAAG intron-variant, upstream-variant-2KB
rs143982550 -- 151,083,443(+) CGGCT(C/T)CCCCA upstream-variant-2KB, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for TMUB1 Gene

Variant ID Type Subtype PubMed ID
nsv889465 CNV Loss 21882294
nsv889476 CNV Loss 21882294
nsv889477 CNV Loss 21882294
dgv7545n71 CNV Loss 21882294
nsv831188 CNV Loss 17160897
dgv7546n71 CNV Loss 21882294
nsv465215 CNV Loss 19166990
nsv6004 CNV Insertion 18451855
dgv7547n71 CNV Loss 21882294
dgv7548n71 CNV Loss 21882294

Variation tolerance for TMUB1 Gene

Residual Variation Intolerance Score: 54% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.91; 18.93% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for TMUB1 Gene

Disorders for TMUB1 Gene

Relevant External Links for TMUB1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMUB1

No disorders were found for TMUB1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TMUB1 Gene

Publications for TMUB1 Gene

  1. Different functions of HOPS isoforms in the cell: HOPS shuttling isoform is determined by RIP cleavage system. (PMID: 24240191) Castelli M. … Servillo G. (Cell Cycle 2014) 3 4 67
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  3. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  4. Novel, gel-free proteomics approach identifies RNF5 and JAMP as modulators of GPCR stability. (PMID: 23798571) Roy S.J. … Parent J.L. (Mol. Endocrinol. 2013) 3
  5. Defining human ERAD networks through an integrative mapping strategy. (PMID: 22119785) Christianson J.C. … Kopito R.R. (Nat. Cell Biol. 2012) 3

Products for TMUB1 Gene

Sources for TMUB1 Gene

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